V37I (p.Val37Ile) variant of ASXL1 (Polycomb group protein ASXL1)
V37I (p.Val37Ile) in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
V37I (p.Val37Ile) variant details
- p.Val37Ile
- gnomAD rs1378944067
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.15
- MetaLR 0.13
- MetaSVM -0.99
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available